Submitted SNP(ss) Details: ss48399194

Submitted SNP(ss) Details: ss48399194

Submitter
Handle	EGP_SNPS
Submitter SNP ID	SLC4A2-002215
RefSNP(rs#)	rs35401760
Submitted Batch ID	SLC4A2-EGP_YORUB-090605
Submitted Date	Sep 07, 2005
Publication Cited	[1] NIEHS Envirommental Genome Project (EGP) - (N01 ES-15478)
First entry to dbSNP	Sep 7 2005 12:00:00:000AM

Resource Links
GenBank Accession	DQ149844
Submitted Gene Name	SLC4A2
Submitted Gene ID	6522
Submitted SNP Synonyms	N.D
Submitted linkout	N.D

Assay
Species	Homo sapiens
Molecular Type	GENOMIC
Method	METHOD-E
Ascertainment Samplesize	24
Population	EGP_YORUB-PANEL

Allele
Observed Allele	A/C
Ancestral Allele	N.D.
Allele Origin	N/A
SNP Class	SNV
CpG Code	N.D.

Validation
Validation Status
HWE Goodness of Fit	not applicable
Homozygote Detected	Y

Variation
Frequency Submission	population count: 5
Genotype Summary	population count: 10
Genotype Submission	N.D.
Haplotype	N.D.

Fasta sequence (Legend)

 AGCGGCGGGG GCGCGCCCCG GGGTGGGCAC GGGGCAGTCG TCGGGAGCGC GCGAGTGCGC
 CGGAGGACGG GGAGAGACCC CGAGACCCCC GGGGCACGAA GTCCAGAGCG AGCGGGTAGG
 CGGAGAGGTG GTGGCGGGGG ACGGCCAGGG CCGCAGAGGG AGGAAGGGAG GGGGAAGGAG
 AGGGGGGAAC TCGGGACTCG AGCGGGGAGG GAGTGGAAGT GGAGGAAAGG GCGGAGACTG
 GGGCGCGGGG AACCG
 M
 GGTCTTGGGG AGAAGGATGG GGAGGCGGAT GGAGTGCTGG TCGGAAGCGG GCATTCCGGG
 GTCCCCTTCT CAGAGTTCCC TAAAGCCAGG GTGCCGCGCC CCCTGCCACC AGGAGGGGGT
 AGTCTCCCCG AGGCGCCGCC GGCCCTCCCA CTCCCCGGCT GGCTCCAGAC CACCCCTCCC
 CTCCGGCCCC CCCGCATAGT CCTTCAGTCC CGTCCGGGGC GCCCAGACTG GGGGTTGCCC
 GGGGCCCCCA TCCCC

Submitted Frequency for ss48399194

Population ID -Class	Sample (2n)	Major Allele Freq.	Minor Allele Freq.	Submission Batch	Submitter
EGP_CEPH-PANEL	44	C=1.00000000	A=0.00000000	SLC4A2-EGP_CEPH-090605	EGP_SNPS
EGP_YORUB-PANEL	24	C=0.83333302	A=0.16666700	SLC4A2-EGP_YORUB-090605	EGP_SNPS
EGP_AD-PANEL	28	C=0.85714298	A=0.14285700	SLC4A2-EGP_AD-090605	EGP_SNPS
EGP_HISP-PANEL	44	C=1.00000000	A=0.00000000	SLC4A2-EGP_HISP-090605	EGP_SNPS
EGP_ASIAN-PANEL	34	C=1.00000000	A=0.00000000	SLC4A2-EGP_ASIAN-090605	EGP_SNPS

dbSNP summary of Genotypes for ss48399194

Population ID -Class	Total Sample (2N)	Founder (2N)	Major Allele Freq.	Minor Allele Freq.	Genotype Freq.	HWE Goodness of Fit	Data Source
HapMap-YRI	226	226	C=0.91150445	A=0.08849557	C/C=0.84070796 A/C=0.14159292 A/A=0.01769911	Pr(chiSq=1.691,df=1) =0.200	Genotype Freq.
EGP_YORUB-PANEL	24	24	C=0.83333331	A=0.16666667	C/C=0.75000000 A/C=0.16666667 A/A=0.08333334	Pr(chiSq=1.920,df=1) =0.200	Genotype Freq.
EGP_AD-PANEL	28	28	C=0.85714287	A=0.14285715	C/C=0.78571427 A/C=0.14285715 A/A=0.07142857	Pr(chiSq=2.431,df=1) =0.150	Genotype Freq.
HAPMAP-ASW	98	98	C=0.85714287	A=0.14285715	C/C=0.75510204 A/C=0.20408164 A/A=0.04081633	Pr(chiSq=1.361,df=1) =0.251	Genotype Freq.
HAPMAP-LWK	180	180	C=0.92777777	A=0.07222223	C/C=0.86666667 A/C=0.12222222 A/A=0.01111111	Pr(chiSq=0.697,df=1) =0.439	Genotype Freq.
HAPMAP-MKK	286	286	C=0.94405591	A=0.05594406	C/C=0.89510489 A/C=0.09790210 A/A=0.00699301	Pr(chiSq=0.765,df=1) =0.403	Genotype Freq.

Submitted individual genotype for ss48399194

There is no individual genotype data for ss48399194.

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